Variant report

Variant	nsv587841
Chromosome Location	chr21:46619840-46647078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46629095..46632023-chr21:46643087..46645467,2	MCF-7	breast:
2	chr21:46626961..46628588-chr21:46630742..46633006,2	MCF-7	breast:
3	chr21:46637241..46640221-chr21:46640373..46643310,2	MCF-7	breast:
4	chr21:46617207..46619731-chr21:46635917..46638327,2	K562	blood:
5	chr21:46639784..46642499-chr21:46642980..46645801,2	K562	blood:
6	chr21:46626961..46628588-chr21:46630742..46633006,2	MCF-7	breast:
7	chr21:46624737..46628208-chr21:46629925..46633186,4	K562	blood:
8	chr21:46614558..46617534-chr21:46620902..46623223,2	K562	blood:
9	chr21:46618280..46621983-chr21:46623328..46625308,3	K562	blood:
10	chr21:46645128..46646956-chr21:46675006..46677594,2	MCF-7	breast:
11	chr21:46642556..46644415-chr21:46646338..46649203,2	MCF-7	breast:
12	chr21:46639784..46642499-chr21:46642980..46645801,2	K562	blood:
13	chr21:46629696..46632039-chr21:46633272..46635087,2	K562	blood:
14	chr21:46629696..46632039-chr21:46633272..46635087,2	K562	blood:
15	chr21:46618795..46620670-chr21:46629791..46632609,2	MCF-7	breast:
16	chr21:46626369..46627880-chr21:46827974..46830101,2	MCF-7	breast:
17	chr21:46624737..46628208-chr21:46629925..46633186,4	K562	blood:
18	chr21:46494100..46496574-chr21:46644222..46646610,2	K562	blood:
19	chr21:46626846..46627631-chr21:46656273..46657060,3	MCF-7	breast:
20	chr21:46622478..46626283-chr21:46626862..46631203,5	MCF-7	breast:
21	chr21:46618280..46621983-chr21:46623328..46625308,3	K562	blood:
22	chr21:46620976..46623601-chr21:46635556..46637129,2	MCF-7	breast:
23	chr21:46628488..46630403-chr21:46630969..46633237,2	K562	blood:
24	chr21:46644635..46649401-chr21:46653595..46657283,5	MCF-7	breast:
25	chr21:46495879..46498410-chr21:46645680..46647627,2	K562	blood:
26	chr21:46534502..46536966-chr21:46634899..46637036,2	K562	blood:
27	chr21:46646544..46648197-chr21:46659492..46661495,2	MCF-7	breast:
28	chr21:46618795..46620670-chr21:46629791..46632609,2	MCF-7	breast:
29	chr21:46629095..46632023-chr21:46643087..46645467,2	MCF-7	breast:
30	chr21:46617772..46620872-chr21:46645062..46648136,3	K562	blood:
31	chr21:46622235..46624099-chr21:46638335..46640658,2	K562	blood:
32	chr21:46642556..46644415-chr21:46646338..46649203,2	MCF-7	breast:
33	chr21:46622235..46624099-chr21:46638335..46640658,2	K562	blood:
34	chr21:46636178..46638672-chr21:46652263..46654342,2	K562	blood:
35	chr21:46637241..46640221-chr21:46640373..46643310,2	MCF-7	breast:
36	chr21:46620976..46623601-chr21:46635556..46637129,2	MCF-7	breast:
37	chr21:46610563..46614105-chr21:46617394..46620381,3	K562	blood:
38	chr21:46628488..46630403-chr21:46630969..46633237,2	K562	blood:
39	chr21:46617772..46620872-chr21:46645062..46648136,3	K562	blood:
40	chr21:46622478..46626283-chr21:46626862..46631203,5	MCF-7	breast:

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ADARB1	hsa-miR-17-5p	chr21:46646033-46646055
2	ADARB1	hsa-miR-193b-3p	chr21:46642908-46642929
3	ADARB1	hsa-miR-193b-3p	chr21:46624563-46624586
4	ADARB1	hsa-miR-93-5p	chr21:46646033-46646055

Variant related genes	Relation type
ENSG00000182586	chromatin interactions
ENSG00000224574	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000267857	chromatin interactions

Extended variants
information (count: 1097 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1097 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1556318	chr21:46619840-46619841	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4392344	chr21:46619846-46619847	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533106690	chr21:46619873-46619874	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78188190	chr21:46619957-46619958	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149511175	chr21:46619967-46619968	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562443551	chr21:46619977-46619978	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376636100	chr21:46620081-46620082	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs59605301	chr21:46620117-46620118	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369945814	chr21:46620145-46620146	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566595437	chr21:46620146-46620147	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185528064	chr21:46620183-46620184	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552099585	chr21:46620230-46620231	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570667243	chr21:46620234-46620235	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372874546	chr21:46620247-46620248	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537746936	chr21:46620266-46620267	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373976032	chr21:46620282-46620283	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568896864	chr21:46620297-46620298	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536267056	chr21:46620310-46620311	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554596734	chr21:46620318-46620319	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189654472	chr21:46620320-46620321	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540761656	chr21:46620358-46620359	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558878548	chr21:46620383-46620384	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368147152	chr21:46620488-46620489	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577393382	chr21:46620508-46620509	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115740386	chr21:46620522-46620523	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563189392	chr21:46620574-46620575	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144089205	chr21:46620578-46620579	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541852037	chr21:46620632-46620633	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376414947	chr21:46620717-46620718	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs34308307	chr21:46620730-46620731	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562146228	chr21:46620752-46620753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372091475	chr21:46620791-46620792	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527388487	chr21:46620792-46620793	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs151288538	chr21:46620810-46620811	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552297203	chr21:46620934-46620935	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs75536517	chr21:46620935-46620936	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs564105943	chr21:46620962-46620963	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs180792737	chr21:46620991-46620992	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577319858	chr21:46621021-46621022	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2838808	chr21:46621106-46621107	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs568015483	chr21:46621142-46621143	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368973853	chr21:46621152-46621153	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536204014	chr21:46621161-46621162	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548167928	chr21:46621182-46621183	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566904340	chr21:46621274-46621275	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148661972	chr21:46621329-46621330	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559041661	chr21:46621375-46621376	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185029293	chr21:46621384-46621385	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538465082	chr21:46621387-46621388	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2838809	chr21:46621438-46621439	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46605200-46620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:46606000-46624400	Weak transcription	Esophagus	oesophagus
4	chr21:46606000-46630600	Weak transcription	Pancreas	Pancrea
5	chr21:46606600-46622200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:46606800-46624400	Weak transcription	Ovary	ovary
7	chr21:46606800-46624400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:46606800-46628400	Weak transcription	NH-A	brain
9	chr21:46606800-46640800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr21:46607000-46622400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:46607600-46628600	Weak transcription	Osteobl	bone
12	chr21:46609000-46624400	Weak transcription	Thymus	Thymus
13	chr21:46609000-46624600	Weak transcription	Placenta	Placenta
14	chr21:46609000-46630600	Weak transcription	Fetal Thymus	thymus
15	chr21:46609000-46630800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:46609600-46634600	Weak transcription	Fetal Heart	heart
17	chr21:46610000-46634800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:46610000-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:46610200-46623600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:46610200-46634400	Weak transcription	Psoas Muscle	Psoas
21	chr21:46610400-46620400	Strong transcription	HSMMtube	muscle
22	chr21:46610400-46641000	Weak transcription	Brain Germinal Matrix	brain
23	chr21:46610400-46641800	Weak transcription	HepG2	liver
24	chr21:46610600-46621800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:46610800-46620000	Weak transcription	Spleen	Spleen
26	chr21:46610800-46624200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr21:46610800-46640200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:46610800-46641000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr21:46610800-46641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:46610800-46647800	Weak transcription	Brain Angular Gyrus	brain
31	chr21:46611000-46620200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr21:46611000-46620400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr21:46611000-46620800	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:46611000-46622400	Weak transcription	Fetal Intestine Small	intestine
35	chr21:46611000-46623200	Weak transcription	Brain Anterior Caudate	brain
36	chr21:46611000-46624200	Weak transcription	NHEK	skin
37	chr21:46611000-46624400	Weak transcription	Brain Hippocampus Middle	brain
38	chr21:46611000-46625200	Weak transcription	Liver	Liver
39	chr21:46611000-46639600	Weak transcription	Fetal Brain Male	brain
40	chr21:46611000-46639600	Weak transcription	Gastric	stomach
41	chr21:46611000-46644600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr21:46611000-46645000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr21:46611200-46624400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr21:46611200-46624400	Weak transcription	Left Ventricle	heart
45	chr21:46611200-46629200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr21:46611200-46630800	Weak transcription	Fetal Intestine Large	intestine
47	chr21:46611400-46622600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr21:46612400-46624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr21:46612600-46620600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr21:46612600-46622000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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